NPHS2 Mutations: A Closer Look to Latin American Countries

Table 1

NPHS2 variants described from June 2013 to February 2017.

Exon/intron	Nucleotide change	Amino acid change	In silico prediction consequence		Ref.	Country
			PolyPhen/score	SIFT/score
Missense
1	c.133T>C	p.Ser46Pro	B/0.0	T/0.28	[29]	India
3	c.415T>A	p.Leu139Arg	P/0.967	D/0.0	[41]	Mexico
4	c.500T>C	p.Leu167Pro	P/1.0	D/0.0	[29]	India
4	c.523C>T	p.Pro175Ser	B/0.0	D/0.0	[29]	India
8	c.946C>T	p.Pro316Ser	P/0.976	D/0.02	[30]	India
Exon/intron	Nucleotide change	Amino acid change	Splice-site prediction by neural network		Ref.	Country
			Score normal sequence	Score mutant sequence
Splice-site
Intron 3	c.451+3A>T	—	0.54	0	[32]	Italy
Intron 4	c.[]5-1G>A	—	0.99	0.54	[28]	China
Intron 5	c.738+2T>C	—	0.90	0	[28]	China
Exon/intron	Nucleotide change	Amino acid change	Consequence		Ref.	Country
Frameshift
5	c.714delG	p.Lis239Argfs13	D		[43]	Brazil
8	c.988_989delCT	p.Ser329 = fs14	D		[38]	Finland

The variants presented in this table were not annotated in the public HGMD (http://www.hgmd.cf.ac.uk/ac/index.php) (access date May 31) or in the GnomeAD Browser (http://gnomad.broadinstitute.org) (access date May 31) or in the Leiden Open Variation Database (https://www.lovd.nl/NPHS2) (access date May 31); PolyPhen: 1.000 = probably damaging (P); 0.5000 = possibly damaging (PO); 0.000 = benign (B). SIFT: ≤0.05 = damaging (D); >0.05 = tolerated (T).